Recurrent KIF2A mutations are responsible for classic lissencephaly-Reference-Cited by-同舟云学术

Recurrent KIF2A mutations are responsible for classic lissencephaly

Published:2016-10-17 Issue:2 Volume:18 Page:73-79
ISSN:1364-6745
Container-title:neurogenetics
language:en
Short-container-title:Neurogenetics

Author:

Cavallin Mara,Bijlsma Emilia K.,El Morjani Adrienne,Moutton Sébastien,Peeters Els A. J.,Maillard Camille,Pedespan Jean Michel,Guerrot Anne-Marie,Drouin-Garaud Valérie,Coubes Christine,Genevieve David,Bole-Feysot Christine,Fourrage Cecile,Steffann Julie,Bahi-Buisson Nadia

Publisher

Springer Science and Business Media LLC

Subject

Cellular and Molecular Neuroscience,Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10048-016-0499-8.pdf

Reference23 articles.

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3. Guerrini R, Dobyns WB (2014) Malformations of cortical development: clinical features and genetic causes. The Lancet Neurology 13(7):710–726. doi: 10.1016/S1474-4422(14)70040-7

4. Pilz DT, Matsumoto N, Minnerath S, Mills P, Gleeson JG, Allen KM, Walsh CA, Barkovich AJ, Dobyns WB, Ledbetter DH, Ross ME (1998) LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation. Hum Mol Genet 7(13):2029–2037

5. Riviere JB, van Bon BW, Hoischen A, Kholmanskikh SS, O’Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, Gripp KW, Kempers M, Kleefstra T, Mancini GM, Nowaczyk MJ, van Ravenswaaij-Arts CM, Roscioli T, Marble M, Rosenfeld JA, Siu VM, de Vries BB, Shendure J, Verloes A, Veltman JA, Brunner HG, Ross ME, Pilz DT, Dobyns WB (2012) De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet 44(4):440–444 . doi: 10.1038/ng.1091 S441-442

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